WormBase Tree Display for Variation: WBVar00278332

WBVar00278332 Evidence: Paper_evidence: WBPaper00059519
  Name: Public_name: eg33
    Other_name (14)
    HGVSg: CHROMOSOME_I:g.11532000C>T
  Sequence_details: SMap: S_parent: Sequence: F32B4
    Flanking_sequences: GGAGATGACTAATCGATGCATGACAGCTAG CAGACTATTGATTGAGGTTCCTGAAAAACA
    Mapping_target: F15D3
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00059519
            Curator_confirmed: WBPerson51134
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004037
    Laboratory: JK
    Status: Live
  Affects: Gene: WBGene00001131
    Transcript: F15D3.1j.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F15D3.1j.1:c.6351G>A
        HGVSp: CE49315:p.Trp2117Ter
        cDNA_position: 8501
        CDS_position: 6351
        Protein_position: 2117
        Exon_number: 34/40
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      F15D3.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F15D3.1a.1:c.9861G>A
        HGVSp: CE27129:p.Trp3287Ter
        cDNA_position: 9920
        CDS_position: 9861
        Protein_position: 3287
        Exon_number: 42/49
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      F15D3.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F15D3.1d.1:c.6384G>A
        HGVSp: CE49191:p.Trp2128Ter
        cDNA_position: 6384
        CDS_position: 6384
        Protein_position: 2128
        Exon_number: 26/32
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      F15D3.1i.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F15D3.1i.1:c.9150G>A
        HGVSp: CE49403:p.Trp3050Ter
        cDNA_position: 9150
        CDS_position: 9150
        Protein_position: 3050
        Exon_number: 36/42
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      F15D3.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F15D3.1c.1:c.9183G>A
        HGVSp: CE49296:p.Trp3061Ter
        cDNA_position: 9183
        CDS_position: 9183
        Protein_position: 3061
        Exon_number: 37/43
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      F15D3.1h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F15D3.1h.1:c.9828G>A
        HGVSp: CE24903:p.Trp3276Ter
        cDNA_position: 9828
        CDS_position: 9828
        Protein_position: 3276
        Exon_number: 40/47
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      F15D3.1e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F15D3.1e.1:c.3570G>A
        HGVSp: CE49456:p.Trp1190Ter
        cDNA_position: 3570
        CDS_position: 3570
        Protein_position: 1190
        Exon_number: 14/20
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor: WBInteraction000504222
      WBInteraction000504536
      WBInteraction000541771
  Genetics: Interpolated_map_position: I 9.1062
  Description: Phenotype: WBPhenotype:0000027 Paper_evidence: WBPaper00064747
        Curator_confirmed: WBPerson1754
        Remark: Decreased endogenous sulfur levels (Figure 1) Paper_evidence: WBPaper00064747
            Curator_confirmed: WBPerson1754
        EQ_annotations: Molecule_affected: WBMol:00002928 PATO:0001997 Paper_evidence: WBPaper00064747
                Curator_confirmed: WBPerson1754
      WBPhenotype:0000548 Paper_evidence: WBPaper00046657
        Curator_confirmed: WBPerson557
        Remark: dys-1 mutants forced to burrow in pipettes showed extensive muscle cell degeneration, therefore burrowing hastens muscular degeneration in these worms. Paper_evidence: WBPaper00046657
            Curator_confirmed: WBPerson557
        Phenotype_assay: Genotype: Pmyo-3::GFP (Pmyo-3::GFP) Paper_evidence: WBPaper00046657
              Curator_confirmed: WBPerson557
      WBPhenotype:0000980 Paper_evidence: WBPaper00061159
        Curator_confirmed: WBPerson1754
        Remark: Figure 5A Paper_evidence: WBPaper00061159
            Curator_confirmed: WBPerson1754
      WBPhenotype:0001401 Paper_evidence: WBPaper00065125
        Curator_confirmed: WBPerson937
      WBPhenotype:0001482 Paper_evidence: WBPaper00065125
        Curator_confirmed: WBPerson937
      WBPhenotype:0001575 Paper_evidence: WBPaper00064747
        Curator_confirmed: WBPerson1754
        Remark: Figure 5 Paper_evidence: WBPaper00064747
            Curator_confirmed: WBPerson1754
      WBPhenotype:0002294 Paper_evidence: WBPaper00035538
        Curator_confirmed: WBPerson2876
      WBPhenotype:0002559 Paper_evidence: WBPaper00046657
        Curator_confirmed: WBPerson557
        Remark: When burrowing bends were faster, more variable in amplitude, and dampened posteriorly compared with wild-type burrowing. Paper_evidence: WBPaper00046657
            Curator_confirmed: WBPerson557
      WBPhenotype:0002617 Paper_evidence: WBPaper00064747
          WBPaper00065125
        Curator_confirmed: WBPerson1754
          WBPerson937
        Remark: Figure 7 Paper_evidence: WBPaper00064747
            Curator_confirmed: WBPerson1754
      WBPhenotype:0002659 Paper_evidence: WBPaper00061159
        Curator_confirmed: WBPerson1754
        Remark: Figure 5D Paper_evidence: WBPaper00061159
            Curator_confirmed: WBPerson1754
    Phenotype_not_observed: WBPhenotype:0001265 Paper_evidence: WBPaper00046657
        Curator_confirmed: WBPerson557
      WBPhenotype:0002320 Paper_evidence: WBPaper00046657
        Curator_confirmed: WBPerson557
      WBPhenotype:0004025 Paper_evidence: WBPaper00046657
        Curator_confirmed: WBPerson557
  Disease_info: Models_disease: DOID:11723
    Models_disease_in_annotation: WBDOannot00000422
      WBDOannot00000423
      WBDOannot00001434
      WBDOannot00001438
  Reference: WBPaper00035538
    WBPaper00046657
    WBPaper00061159
    WBPaper00059519
    WBPaper00044415
    WBPaper00064747
    WBPaper00065125
  Method: Substitution_allele